Variant report

Variant	rs73429626
Chromosome Location	chr11:4017600-4017601
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr11:4016528-4019019	K562	blood:	n/a	n/a
2	CBX3	chr11:4017002-4017600	K562	blood:	n/a	n/a
3	ATF1	chr11:4017147-4017633	K562	blood:	n/a	n/a
4	TEAD4	chr11:4017011-4017658	K562	blood:	n/a	n/a
5	PBX3	chr11:4017115-4017724	SK-N-SH	brain:	n/a	n/a
6	BHLHE40	chr11:4017224-4017840	K562	blood:	n/a	n/a
7	SETDB1	chr11:4017038-4017630	U2OS	brain:	n/a	n/a
8	KAP1	chr11:4017008-4017925	HEK293	kidney:	n/a	n/a
9	GATA2	chr11:4017002-4017732	HUVEC	blood vessel:	n/a	n/a
10	JUND	chr11:4017087-4017687	K562	blood:	n/a	n/a
11	KAP1	chr11:4017073-4017837	U2OS	brain:	n/a	n/a
12	FOS	chr11:4017104-4017641	HUVEC	blood vessel:	n/a	n/a
13	GATA3	chr11:4016998-4017716	SK-N-SH	brain:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:3929305..3931209-chr11:4016785..4019728,2	K562	blood:
2	chr11:3861620..3863293-chr11:4016277..4018859,2	K562	blood:

No data

Variant related genes	Relation type
STIM1	TF binding region
ENSG00000177105	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs16929551	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16929583	1.00[AMR][1000 genomes]
rs35960304	1.00[AMR][1000 genomes]
rs56724828	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57599213	1.00[AMR][1000 genomes]
rs57719656	1.00[AMR][1000 genomes]
rs58288151	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58677531	1.00[AMR][1000 genomes]
rs59787805	1.00[AMR][1000 genomes]
rs59984032	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60473343	1.00[AMR][1000 genomes]
rs73417145	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73417150	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73417174	1.00[AMR][1000 genomes]
rs73425486	1.00[AMR][1000 genomes]
rs73425494	1.00[AMR][1000 genomes]
rs73427517	1.00[AMR][1000 genomes]
rs73427519	1.00[AMR][1000 genomes]
rs73427520	1.00[AMR][1000 genomes]
rs73427524	1.00[AMR][1000 genomes]
rs73427545	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73427556	1.00[AMR][1000 genomes]
rs73427561	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73427572	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73429609	1.00[AMR][1000 genomes]
rs73429612	1.00[AMR][1000 genomes]
rs73429634	1.00[EUR][1000 genomes]
rs73429638	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73431611	1.00[AMR][1000 genomes]
rs73431633	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73431654	1.00[EUR][1000 genomes]
rs73431655	1.00[EUR][1000 genomes]
rs73431657	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73431662	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052744	chr11:3739162-4017601	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv1047025	chr11:3750969-4017601	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv1046065	chr11:3808818-4049150	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv540909	chr11:3808818-4049150	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv971974	chr11:4009259-4018790	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv896896	chr11:4010409-4185595	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv1042719	chr11:4017541-4101609	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3989400-4031000	Weak transcription	Aorta	Aorta
2	chr11:4006800-4022600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr11:4009400-4020200	Weak transcription	Pancreas	Pancrea
4	chr11:4011800-4027600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr11:4015600-4020400	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr11:4016000-4018200	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr11:4016000-4018400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr11:4016000-4020400	Weak transcription	Thymus	Thymus
9	chr11:4016600-4017600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr11:4016600-4017600	ZNF genes & repeats	Primary B cells from cord blood	blood
11	chr11:4016600-4017600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr11:4016600-4017600	Enhancers	Dnd41	blood
13	chr11:4016600-4017800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr11:4016600-4017800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr11:4016600-4017800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr11:4016600-4018000	Enhancers	Primary T cells from cord blood	blood
17	chr11:4016600-4018000	Enhancers	Small Intestine	intestine
18	chr11:4016600-4018000	Enhancers	NHDF-Ad	bronchial
19	chr11:4016600-4018200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr11:4016600-4018400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr11:4016600-4018600	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr11:4016600-4018800	Enhancers	Placenta Amnion	Placenta Amnion
23	chr11:4016600-4018800	Enhancers	Psoas Muscle	Psoas
24	chr11:4016600-4019000	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr11:4016600-4019000	Enhancers	K562	blood
26	chr11:4016600-4019200	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr11:4016600-4019600	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr11:4016800-4017600	Enhancers	Primary T cells fromperipheralblood	blood
29	chr11:4016800-4017800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr11:4016800-4017800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr11:4016800-4017800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr11:4016800-4017800	Enhancers	Osteobl	bone
33	chr11:4016800-4018000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr11:4016800-4018600	Enhancers	Left Ventricle	heart
35	chr11:4017000-4017800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr11:4017000-4017800	Enhancers	Muscle Satellite Cultured Cells	--
37	chr11:4017200-4017600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr11:4017200-4017600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr11:4017200-4017600	Enhancers	Fetal Thymus	thymus
40	chr11:4017200-4017800	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr11:4017200-4017800	Enhancers	Fetal Kidney	kidney
42	chr11:4017200-4018000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr11:4017200-4018200	Enhancers	Adipose Nuclei	Adipose
44	chr11:4017200-4018400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr11:4017200-4018800	Enhancers	Fetal Stomach	stomach
46	chr11:4017200-4019400	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr11:4017200-4019400	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr11:4017400-4017800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr11:4017400-4017800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr11:4017400-4017800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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